A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602490



Internal ID6989524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:142773813..142775296hg38UCSC Ensembl
Innerchr4:142773828..142775282hg38UCSC Ensembl
Outerchr4:142773799..142775311hg38UCSC Ensembl
chr4:143694966..143696449hg19UCSC Ensembl
Innerchr4:143694981..143696435hg19UCSC Ensembl
Outerchr4:143694952..143696464hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg381484
hg191484
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11637392, essv11637403, essv11637396, essv11637401, essv11637406, essv11637395, essv11637393, essv11637397, essv11637405, essv11637400, essv11637404, essv11637398, essv11637394, essv11637402, essv11637399
SamplesNA19141, HG02870, NA19374, NA19197, HG02315, NA19385, HG02623, HG03027, HG03476, HG03388, HG03028, HG02759, HG03039, HG02462, NA18505
Known GenesINPP4B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602490
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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